FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term glycogen storage disease III ID (Ontology) DOID:2748 (Human Disease)
Definition A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21.
Also Known As "amylo 1,6 glucosidase deficiency" ; "deficiency of debranching enzyme" ; "deficiency of dextrin" (for all, see Synonyms field below)
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 glycogen storage disease III       1      1
 for disease ribbon | glycogen storage disease III       1       --
 model of | glycogen storage disease III       1       --
Spanning Tree (Parents/Children)
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glycogen metabolism disorder
 |__glycogen storage disease_____
autosomal genetic disease        |
 |__autosomal recessive disease__|
                                 glycogen storage disease III  2 rec.
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Is a autosomal recessive disease
glycogen storage disease
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Synonyms
  • "amylo 1,6 glucosidase deficiency" EXACT
    "deficiency of debranching enzyme" EXACT
    "deficiency of dextrin" EXACT
    "Glycogen storage disease 3" EXACT
    "Glycogen storage disease, type III" EXACT
Secondary IDs
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ICD10CM:E74.03
MESH:D006010
MIM:232400
NCI:C84736
SNOMEDCT_US_2023_03_01:66937008
UMLS_CUI:C0017922